American journal of medical genetics. Part A
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Am. J. Med. Genet. A · Jun 2014
Parents' experiences of receiving their child's genetic diagnosis: a qualitative study to inform clinical genetics practice.
Little is currently known about how parents experience the medical genetics appointment at which their child receives a genetic diagnosis. We conducted semi-structured in-person interviews with 13 parents of 10 index children to explore their experience in the medical genetics appointment in which they received their child's genetic diagnosis. Guided by grounded theory, we used a constant comparative approach to data analysis. ⋯ Few participants understood the role of the genetic counselor. Our results provide in-depth insight into the parental experience of the pediatric medical genetics diagnosis session. We propose a mechanism through which parental experience shapes their perception of the medical genetics session.
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Am. J. Med. Genet. A · Jun 2014
Relationship between whole-body tumor burden, clinical phenotype, and quality of life in patients with neurofibromatosis.
Patients with neurofibromatosis 1 (NF1), NF2, and schwannomatosis share a predisposition to develop multiple nerve sheath tumors. Previous studies have demonstrated that patients with NF1 and NF2 have reduced quality of life (QOL), but no studies have examined the relationship between whole-body tumor burden and QOL in these patients. We administered a QOL questionnaire (the SF-36) and a visual analog pain scale (VAS) to a previously described cohort of adult neurofibromatosis patients undergoing whole-body MRI. ⋯ Regression models for NF2 patients showed a positive relationship between tumor burden and increased pain, as measured by the SF-36 (P = 0.008). Patients with NF1, NF2, and schwannomatosis suffer from reduced QOL, although only pain shows a clear relationship to patient's overall tumor burden. These findings suggest that internal tumor volume is not a primary contributor to QOL and emphasize the need for comprehensive treatment approaches that go beyond tumor-focused therapies such as surgery by including psychosocial interventions.